Canonical Allele Identifier: CA2580062264
Community Standard Title: NM_001010867.4(IBA57):c.935del (p.Ala312ValfsTer?)
Gene: IBA57 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.228175377del , CM000663.2:g.228175377del GRCh38
NC_000001.10:g.228363078del , CM000663.1:g.228363078del GRCh37
NC_000001.9:g.226429701del NCBI36
NG_042231.1:g.14570del

Transcript Alleles

HGVS Amino-acid Change
NM_001010867.4:c.935del MANE Select NP_001010867.1:p.Ala312ValfsTer?
ENST00000366711.4:c.935del MANE Select ENSP00000355672.3:p.Ala312ValfsTer?
NM_001010867.2:c.935del NP_001010867.1:p.Ala312ValfsTer?
NM_001010867.3:c.935del NP_001010867.1:p.Ala312ValfsTer?
NM_001310327.1:c.356del NP_001297256.1:p.Ala119ValfsTer?
NM_001310327.2:c.356del NP_001297256.1:p.Ala119ValfsTer?
ENST00000366711.3:c.935del ENSP00000355672.3:p.Ala312ValfsTer?
ENST00000484749.5:n.2935del
ENST00000546123.2:n.655del
XM_006711753.2:c.679+348del XP_006711816.1:n.679+348del
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